Determinants of dental care use in patients with rare diseases: a qualitative exploration by Lisa Friedlander, Ariane Berdal, Valérie Cormier-Daire, Stanislas Lyonnet, Nicolas Garcelon

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Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction method by Lisa Friedlander, Marc Vincent, Ariane Berdal, Valérie Cormier-Daire, Stanislas Lyonnet, Nicolas Garcelon

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Correction: Mining Electronic Health Records for Drugs Associated With 28-day Mortality in COVID-19: Pharmacopoeia-wide Association Study (PharmWAS) by Ivan Lerner, Arnaud Serret-Larmande, Bastien Rance, Nicolas Garcelon, Anita Burgun, Laurent Chouchana, Antoine Neuraz

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Mining Electronic Health Records for Drugs Associated With 28-day Mortality in COVID-19: Pharmacopoeia-wide Association Study (PharmWAS) by Ivan Lerner, Arnaud Serret-Larmande, Bastien Rance, Nicolas Garcelon, Anita Burgun, Laurent Chouchana, Antoine Neuraz

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Humanitarian Facial Recognition for Rare Craniofacial Malformations by Quentin Hennocq, MD, Thomas Bongibault, MSc, Nicolas Garcelon, PhD, Roman Hossein Khonsari, MD, PhD

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Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and se... by Carole Faviez, Marc Vincent, Nicolas Garcelon, Olivia Boyer, Bertrand Knebelmann, Laurence Heidet, Sophie Saunier, Xiaoyi Chen, Anita Burgun

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Allograft function and muscle mass evolution after kidney transplantation by François Gaillard, Mélissa Ould Rabah, Nicolas Garcelon, Malik Touam, Antoine Neuraz, Christophe Legendre, Dany Anglicheau, Dominique Prié, Frank Bienaimé

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Evaluation of Hydroxychloroquine Blood Concentrations and Effects in Childhood-Onset Systemic Lupus Erythematosus by Noël Zahr, Saik Urien, Christian Funck-Brentano, Hélène Vantomme, Nicolas Garcelon, Isabelle Melki, Margaux Boistault, Olivia Boyer, Brigitte Bader-Meunier

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Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies by Carole Faviez, Xiaoyi Chen, Nicolas Garcelon, Mohamad Zaidan, Katy Billot, Friederike Petzold, Hassan Faour, Maxime Douillet, Jean-Michel Rozet, Valérie Cormier-Daire, Tania Attié-Bitach, Stanislas Lyonnet, Sophie Saunier, Anita Burgun

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BLNK mutation associated with T-cell LGL leukemia and autoimmune diseases: Case report in hematology by Guillemette Fouquet, Guillemette Fouquet, Guillemette Fouquet, Julien Rossignol, Laure Ricard, Flavia Guillem, Flavia Guillem, Lucile Couronné, Vahid Asnafi, Manon Vavasseur, Mélanie Parisot, Nicolas Garcelon, Frédéric Rieux-Laucat, Arsène Mekinian, Arsène Mekinian, Olivier Hermine, Olivier Hermine, Olivier Hermine

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Safety and efficacy of brentuximab vedotin as a treatment for lymphoproliferative disorders in primary immunodeficiencies by Thomas Pincez, Julie Bruneau, Laureline Berteloot, Eve Piekarski, Caroline Thomas, Ambroise Marçais, Amélie Trinquand, Martin Castelle, Nicolas Garcelon, Dominique Plantaz, Morgane Cheminant, Despina Moshous, Thierry Jo Molina, Olivier Hermine, Elizabeth Macintyre, Alain Fischer, Stéphane Blanche, Felipe Suarez, Bénédicte Neven

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Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome by Quentin Hennocq, Marjolaine Willems, Jeanne Amiel, Stéphanie Arpin, Tania Attie-Bitach, Thomas Bongibault, Thomas Bouygues, Valérie Cormier-Daire, Pierre Corre, Klaus Dieterich, Maxime Douillet, Jean Feydy, Eva Galliani, Fabienne Giuliano, Stanislas Lyonnet, Arnaud Picard, Thantrira Porntaveetus, Marlène Rio, Flavien Rouxel, Vorasuk Shotelersuk, Annick Toutain, Kevin Yauy, David Geneviève, Roman H. Khonsari, Nicolas Garcelon

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Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds. by Fabienne Charbit-Henrion, Bernadette Bègue, Anaïs Sierra, Sylvain Hanein, Marie-Claude Stolzenberg, Zhi Li, Sandra Pellegrini, Nicolas Garcelon, Marc Jeanpierre, Bénédicte Neven, Isabelle Loge, Capucine Picard, Jérémie Rosain, Jacinta Bustamante, Marc Le Lorc'h, Bénédicte Pigneur, Alicia Fernandes, GENIUS Group, Frédéric Rieux-Laucat, Jorge Amil Dias, Frank M Ruemmele, Nadine Cerf-Bensussan

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Charting a course for global progress in PIDs by 2030 — proceedings from the IPOPI global multi-stakeholders’ summit (September 2023) by Samya Van Coillie, Johan Prévot, Silvia Sánchez-Ramón, David M. Lowe, David M. Lowe, Michael Borg, Brigitte Autran, Gesmar Segundo, Antonio Pecoraro, Nicolas Garcelon, Cornelis Boersma, Cornelis Boersma, Cornelis Boersma, Susana L. Silva, Susana L. Silva, Jose Drabwell, Isabella Quinti, Isabelle Meyts, Adli Ali, Adli Ali, Siobhan O. Burns, Siobhan O. Burns, Martin van Hagen, Martin van Hagen, Martine Pergent, Nizar Mahlaoui, Nizar Mahlaoui

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Characteristics and outcomes associated with CD2 and CD25 expression on bone marrow mast cells in patients with systemic mastocytosis by Julien Rossignol, Sophie Georgin-Lavialle, Danielle Canioni, Omer Beganovic, Chantal Brouzes, Olivier Fain, Maël Heiblig, Clément Gourguechon, Philippe Guilpain, Cristina Bulai-Livideanu, Stéphane Barete, Julie Agopian, Fabienne Brenet, Patrice Dubreuil, Richard Lemal, Olivier Tournilhac, Louis Terriou, David Launay, Laurence Bouillet, Catharina Chatain, Ghandi Damaj, Thomas Ballul, Celine Greco, Laura Polivka, Laurent Frenzel, Cécile Meni, Hassiba Bouktit, Dina Benabou, Clotilde Devin, Caroline Gaudy-Marqueste, Marie Gousseff, Edwige Le Mouel, Antoine Neel, Dana Ranta, Roland Jaussaud, Thierry Jo Molina, Julie Bruneau, Rose-Marie Javier, Fabien Pelletier, Florence Castelain, Frederique Retornaz, Quentin Cabrera, Patricia Zunic, Marie Pierre Gourin, Ewa Wierzbicka-Hainaut, Jean François Viallard, Christian Lavigne, Cyrille Hoarau, Isabelle Durieu, Sophie Dimicoli-Salazar, Jose Miguel Torregrosa-Diaz, Audrey Duval, Nicolas Garcelon, Jeremie Lespinasse, Angèle Soria, Yannick Chantran, Michel Arock, Christine Bodemer, Olivier Lortholary, Vahid Asnafi, Olivier Hermine, Ludovic Lhermitte

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Characterization of patients with clonal mast cells in the bone marrow with clinical significance not otherwise specifiedResearch in context by Thomas Ballul, Vito Sabato, Peter Valent, Olivier Hermine, Olivier Lortholary, Julien Rossignol, Thomas Ballul, Vito Sabato, Cristina Bulai Livideanu, Antoine Neuraz, Julie Agopian, Fabienne Brenet, Patrice Dubreuil, Didier G. Ebo, Michiel Beyens, Richard Lemal, Olivier Tournilhac, Louis Terriou, David Launay, Laurence Bouillet, Catharina Chatain, Clément Gourguechon, Gandhi Damaj, Stéphane Durupt, Celine Greco, Laurent Frenzel, Christine Bodemer-Skandalis, Laura Polivka, Marine Madrange, Cécile Meni, Hassiba Bouktit, Anne Florence Bellais, Jean-Marc Durand, Marie Gousseff, Edwige Le Mouel, Mohamed Hamidou, Antoine Neel, Dana Ranta, Mathilde Niault, Aurélie Schiffmann, Stéphane Barete, Michel Arock, Danielle Canioni, Thierry Jo Molina, Julie Bruneau, Mélanie Vaes, Violaine Havelange, Hassan Faour, Nicolas Garcelon, Rose-Marie Javier, Fabien Pelletier, Florence Castelain, Denis Vincent, Frédérique Retornaz, Quentin Cabrera, Patricia Zunic, Philippe Guilpain, Marie Pierre Gourin, Ewa Wierzbicka–Hainaut, Jean François Viallard, Christian Lavigne, Cyrille Hoarau, Ludovic Lhermitte, Maël Heiblig, Roland Jaussaud, Peter Valent, Olivier Hermine, Olivier Lortholary, Julien Rossignol

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Risk of Death in Individuals Hospitalized for COVID-19 With and Without Psychiatric Disorders: An Observational Multicenter Study in France by Nicolas Hoertel, Marina Sánchez-Rico, Pedro de la Muela, Miriam Abellán, Carlos Blanco, Marion Leboyer, Céline Cougoule, Erich Gulbins, Johannes Kornhuber, Alexander Carpinteiro, Katrin Anne Becker, Raphaël Vernet, Nathanaël Beeker, Antoine Neuraz, Jesús M. Alvarado, Juan José Herrera-Morueco, Guillaume Airagnes, Cédric Lemogne, Frédéric Limosin, Pierre-Yves Ancel, Alain Bauchet, Nathanaël Beeker, Vincent Benoit, Mélodie Bernaux, Ali Bellamine, Romain Bey, Aurélie Bourmaud, Stéphane Breant, Anita Burgun, Fabrice Carrat, Charlotte Caucheteux, Julien Champ, Sylvie Cormont, Christel Daniel, Julien Dubiel, Catherine Ducloas, Loic Esteve, Marie Frank, Nicolas Garcelon, Alexandre Gramfort, Nicolas Griffon, Olivier Grisel, Martin Guilbaud, Claire Hassen-Khodja, François Hemery, Martin Hilka, Anne Sophie Jannot, Jerome Lambert, Richard Layese, Judith Leblanc, Léo Lebouter, Guillaume Lemaitre, Damien Leprovost, Ivan Lerner, Kankoe Levi Sallah, Aurélien Maire, Marie-France Mamzer, Patricia Martel, Arthur Mensch, Thomas Moreau, Antoine Neuraz, Nina Orlova, Nicolas Paris, Bastien Rance, Hélène Ravera, Antoine Rozes, Elisa Salamanca, Arnaud Sandrin, Patricia Serre, Xavier Tannier, Jean-Marc Treluyer, Damien Van Gysel, Gaël Varoquaux, Jill Jen Vie, Maxime Wack, Perceval Wajsburt, Demian Wassermann, Eric Zapletal

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